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rs80358239

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358239(A;C)
Make rs80358239(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position201209363
GeneCASP10
is asnp
is mentioned by
dbSNPrs80358239
ebirs80358239
HLIrs80358239
Exacrs80358239
Varsomers80358239
Maprs80358239
PheGenIrs80358239
hapmaprs80358239
1000 genomesrs80358239
hgdprs80358239
ensemblrs80358239
gopubmedrs80358239
geneviewrs80358239
scholarrs80358239
googlers80358239
pharmgkbrs80358239
gwascentralrs80358239
openSNPrs80358239
23andMers80358239
23andMe allrs80358239
SNP Nexus

SNPshotrs80358239
SNPdbers80358239
MSV3drs80358239
GWAS Ctlgrs80358239
GMAF0.0009183
Max Magnitude0
OMIM601762
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80358239(C,T;C,T)
Alt rs80358239(C,T;C,T)
Reference rs80358239(A;A)
Significance Pathogenic
Disease Autoimmune lymphoproliferative syndrome
Variation info
Gene CASP10
CLNDBN Autoimmune lymphoproliferative syndrome, type 2
Reversed 0
HGVS NC_000002.11:g.202074086A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008211.1,


[PMID 10412980] Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.


[PMID 16446975] Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.